Revista Médica Internacional sobre el Síndrome de Down最新文献

We present the first case reported in the Republic of Colombia of associated trisomy 21-holoprosencephaly, one of the few in the world literature. The patient was a male newborn, the son of a healthy primiparous 19 year old. An obstetric sonogram at 27 weeks gestation revealed the foetus with both cerebral ventricles dilated, semilobar holoprosencephaly and cleft lip and palate. The mother received a detailed ultrasound scan and amniocentesis for foetal cytogenetic study. A caesarean section was performed at 38 weeks. The newborn weighed 2200 g and was 46 cm long. The head circumference was 28 cm; thoracic girth, 28.5 cm; and abdominal girth, 27 cm. Apgar score was 6 at 1 minute, 6 at 5 minutes and 9 at 10 minutes. Physically, the newborn had a full moon face, mongoloid obliquity of the palpebral fissure, nasal bone hypoplasia, micrognathia and cleft lip and palate. Simple and contrast computed axial tomography of the brain showed semilobar holoprosencephaly and cleft lip. At 25 hours of life, the newborn expired from respiratory arrest.

Prenatal chromosome analysis presented a 47, XY, +21 G-band karyotype. Postnatal cytogenetic analysis, performed on umbilical cord blood using the fluorescent in situ hybridization (FISH) technique with a locus specific identifier (LSI) 13/21 probe, showed the formula: nuc ish (D13Zx2), (D21Zx3) [30].

The cytogenetic aetiology of chromosome 21 and the holoprosencephaly gene are discussed, focusing on the fact that cytogenetic and gene alterations could function synergically and coincide in their expression with the postulate of the multiple-hit process.

Introduction

Down syndrome (DE) is a chromosomal disorder with variable phenotypic expression, although different patients share some common features. Among them, hypotonia, ligament laxity and delayed psychomotor developmental stand out. These traits can improve with early therapy, but remain as gait instability and pathologic compensatory strategies in adult patients.

Pathological gait in DS patients has been studied previously, but the treatment of motor problems has not been approached from a neurological rehabilitation viewpoint, focused on quality of function.

Objectives

The aim of this study was to describe the gait alterations in a sample of patients with DS and to assess changes after Bobath physiotherapy.

Material and methods

An experimental prospective uncontrolled study was performed. Ten adults with DS (mean age: 28 years) were assessed at baseline and after 10 sessions of Bobath physiotherapy treatment. Quantitative data (such as step length or walking speed) and qualitative data (such as characteristics of arm movements and instability) were recorded by an evaluator blinded to the treatment received.

Results

Clear deviations with respect to normal adult gait were found, and a trend towards improvement after physiotherapy treatment. The results were significant in the correction of pitch angle and its symmetry.

The study has revealed the potential benefits of physiotherapy in adults with DS and the need to complete more studies in this sense.

Aim

To identify the feasibility of 2 cardiorespiratory function field-based tests on adults with Down syndrome

Methods

Thirty-three adults with Down syndrome (mean age 27.21 ± 8.76 years; 60.6% men) carried out the Mini-Cooper Test (MC) and the 16 meters shuttle run test (16-m PACER). During the performance of both tests, heart rate was monitored with the aim of measuring the degree of effort shown by the participants. The Pearson correlation coefficient was used to assess the level of concordance between both tests.

Results

Both the MC and the 16-m PACER were easy to administer, and understandable for all the participants. Significant differences were observed by sex. Men achieved greater distances than women in the MC (529.23 ± 127.45 vs. 690.00 ± 126.59 meters), and reached more stages in the 16-m PACER (1.69 ± 1.07 vs. 3.15 ± 1.28). The analysis of the degree of effort showed that final heart rate obtained at the end of both tests were around 90% of the predicted maximum heart rate. A significant degree of correlation between the MC and the 16-m PACER was observed both in men (r = 0.567;sig = 0.043) and in women (r = 0.797;sig = 0.001).

Conclusion

The results of this study suggest that the MC and the 16-m PACER test can be safely performed by adults with Down syndrome in order to assess their cardiorespiratory function.

Introduction

Musculoskeletal disorders of the locomotive apparatus are common in young people with Down syndrome (DS), especially in the feet. Early diagnosis by examination of podiatric footprints can help prevent orthopaedic symptoms. Our objective was to analyze, measure and classify footprints on the basis of podiatric indices (gold standard) in young people with DS.

Method

Cross-sectional study; 86 footprints were analyzed from 2 groups; there were 21 healthy subjects, 11 men 20.45 (2.16) years and 10 females 20.00 (1.70) years; and 22 subjects with DS, 11 men 23.82 (3.12) years and 11 females 24.82 (6.81) years. Footprints were recorded in standing position using an optical pedoscope and a digital camera system. We calculated the Hernández-Corvo index, Chippaux-Smirak index, Clarke's angle and Stahelli index. We then compared the results of both samples and analyzed the concordance between types of feet and right and left feet by Chi-square test.

Results

Footprints in individuals with DS showed flatfoot and/or pronated foot of 38.6% according to Hernández-Corvo index; 50%, to Chippaux-Smirak; 70.4%, to Stahelli; and 59.1%, to Clarke's angle. In healthy subjects the rates of cavus foot were 57.1%, according to Hernández-Corvo index; 59.5%, to Chippaux-Smirak index; and 81%, to Stahelli index; while 57.1% showed a normal foot based on Clarke's angle. Differences between the 2 groups were statistically significant (P < .01) in Chippaux-Smirak index, Stahelli index and Clarke's angle. The correlation between the right and left foot was not significant.

Conclusions

Young people with DS had a higher percentage of pronation and a lower percentage of cavus foot than the control group.

Research that focuses on the expressive-receptive language gap in individuals with Down syndrome (DS) has consistently found that receptive language skills are more advanced than expressive language skills. Although this research has been limited to children, the assumption has been made that the relationship between receptive and expressive language skills does not change over the lifespan. The current research focuses on the receptive-expressive language gap in adults with DS. The first phase of the study used a survey to explore the perceived difficulty of receptive and expressive language tasks by adults with DS. Findings were that the adults perceive receptive language tasks (following instructions) to be more difficult than expressive language tasks (speaking to others at work). The second phase of the study was designed as a follow-up to the survey results to explore the receptive-expressive language gap in greater depth in ten adults with DS. Formal language testing, surveys and interviews were used. Formal testing indicated that the relationship between receptive and expressive language skills was more individualized in the adults. Survey and interview results indicated that participants perceived receptive skills to be more difficult than expressive skills in employment settings and daily living. Discussion considers reasons for the between subject variation and ramifications for IEP (Individualiized Eduation Program) and transition planning. Conclusion is that the assumption cannot be made that the receptive-expressive language gap is the same at different ages and that there is a need to individually assess receptive and expressive language skills at all ages.

Background

There are only few publications related to body composition in Down syndrome (DS).

Objective

Evaluate the relationship between indicators of nutrition assessment by Catalan references and CDC/NCHS and indicators of body composition, and compare the concordance between weight/height index (IW/H), body mass index/age (BMI/A) and weight/age (W/A) to evaluate nutritional status in children with DS.

Materials and methods

Analytical cross-sectional study in which 40 children with DS, 20 girls and 20 boys between 3 and 13 years old were studied. Anthropometric measurements were performed to obtain indicators of nutrition assessment as IW/H, BMI/A and W/A and indicators of subcutaneous and visceral fat and muscular compartment. Correlation tests and Kappa index were evaluated to establish relationship and agreement respectively.

Results

The nutrition assessment in children with DS shows that 60% presents overweight and obesity according to BMI/A, and 75% according to IW/H. Correlation analysis indicates that waist circumference, fat brachial area, % fat mass by Slaughter and Weststrate and Deurenberg have a high positive correlation with BMI/A (p-value < 0.05). A logistic regression model showed that no indicator of fat mass is clinically significant in predicting an increase of the indicator W/A. It was determined that the BMI/A and IW/H indicators have a higher concordance (Kappa = 0.59; p =.0000).

Conclusions

We determined a high correlation between nutritional diagnosis (BMI/A and IW/A) with indicators of visceral fat (waist circumference) and subcutaneous (% fat mass and fat brachial area) in children with DS. A greater agreement was found between indicators of BMI/A and IW/A suggesting that they are optimal for assessing the nutritional status.